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LOC107161156 CD2 5' regulatory region [ Homo sapiens (human) ]

Gene ID: 107161156, updated on 10-Oct-2023

Summary

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Gene symbol
LOC107161156
Gene description
CD2 5' regulatory region
Gene type
biological region
Feature type(s)
protein_bind
regulatory: DNase_I_hypersensitive_site, promoter, silencer, transcriptional_cis_regulatory_region
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This genomic region represents the promoter and 5' flanking region of the CD2 gene. It is characterized by two DNase I hypersensitive sites (DHS1 and DHS2), where gene-distal DHS1 includes both activator and repressor activities, and gene-proximal DHS2 represents open chromatin around the transcription start site. This 5' flanking region works together with a locus control region, which is located 3' of the gene, to regulate T cell-specific gene expression. [provided by RefSeq, Feb 2016]
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Genomic context

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See LOC107161156 in Genome Data Viewer
Location:
1p13.1
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (116751950..116754547)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (116762393..116764990)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (117294572..117297169)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene glyceraldehyde-3-phosphate dehydrogenase pseudogene 64 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1573 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1574 Neighboring gene NEFH pseudogene 1 Neighboring gene CD2 molecule Neighboring gene CD2 locus control region Neighboring gene ferritin heavy chain 1 pseudogene 22 Neighboring gene Sharpr-MPRA regulatory region 9503 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:117363109-117363310 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1575 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:117403141-117403881 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:117403882-117404621 Neighboring gene Sharpr-MPRA regulatory region 12934 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:117421310-117422509 Neighboring gene uncharacterized LOC105378927

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. The T-lineage-affiliated CD2 gene lies within an open chromatin environment in acute promyelocytic leukemia cells. Grimwade D, et al. Cancer Res, 2002 Aug 15. PMID 12183432
  2. Repression of CD2 gene expression is mediated by an AP-2 related factor. Outram SV, et al. Biochem Biophys Res Commun, 2001 Feb 23. PMID 11181063
  3. The helix-loop-helix containing transcription factor USF activates the promoter of the CD2 gene. Outram SV, et al. J Biol Chem, 1994 Oct 21. PMID 7929376
  4. Chromatin configuration of the human CD2 gene locus during T-cell development. Wotton D, et al. Proc Natl Acad Sci U S A, 1989 Jun. PMID 2567000, Free PMC Article
  5. The structure of the human CD2 gene and its expression in transgenic mice. Lang G, et al. EMBO J, 1988 Jun. PMID 2901953, Free PMC Article

See all (6) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See Variation Viewer (GRCh37.p13)

General gene information

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Other Names

  • CD2 upstream flanking region

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_046701.1 

    Range
    101..2698
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    116751950..116754547
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    116762393..116764990
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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